Diphenoloxidases in X-linked recessive (Duchenne) muscular dystrophy.
In extracts derived from whole blood, a high molecular weight fraction of the diphenoloxidase enzymes has a significantly diminished specific activity in patients and definite carriers (heterozygotes) of the X-linked, recessive (Duchenne) form of muscular dystrophy. This anomaly was studied using spots of blood which had been collected on absorbent paper and stored at 4 degrees C for variable periods of time. Fractions enriched in the enzymes were obtained by subjecting aqueous extracts of the spots to treatment with an anion exchange resin (DEAE Sephadex A 50) followed by gel filtration on Sephadex G-25. It is of interest that this anomaly was observed in some definite carriers of the mutant gene who had on several occasions a serum creatine kinase level in the normal range. The significance of these observations is discussed.
D000293:Adolescent; D000328:Adult; D001792:Blood Platelets / Q000201:enzymology*; D004156:Catechol Oxidase / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D004295:Dihydroxyphenylalanine; D004837:Epinephrine; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D014442:Monophenol Monooxygenase / Q000378:metabolism; D009136:Muscular Dystrophies / Q000201:enzymology* / Q000235:genetics; D014960:X Chromosome
D004295:Dihydroxyphenylalanine; D004156:Catechol Oxidase; D014442:Monophenol Monooxygenase; D004837:Epinephrine